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2,457 Possible Causes for Skeletal Dysplasia, Sloping Shoulders, Urine Hyaluronic Acid Increased

  • Cleidocranial Dysplasia

    Cleidocranial dysostosis (CCD) is a rare skeletal dysplasia with predominantly membranous bone involvement. It carries an autosomal dominant inheritance 4.[web.archive.org] shoulders that can be apposed at the midline, short stature, mid-face hypoplasia, multiple supernumerary teeth, and skeletal anomalies.[ncbi.nlm.nih.gov] Neurological examinations revealed sloping shoulders, weakness, and atrophy in the proximal areas of the arms, shoulder girdle muscles, and legs.[ncbi.nlm.nih.gov]

    Missing: Urine Hyaluronic Acid Increased
  • Ruijs Aalfs Syndrome

    Dysplasia Osteolysis Syndrome Oslam syndrome Osteopenic Nonfracture Syndrome osteoporosis-pseudoglioma syndrome Otofacioosseous-Gonadal Syndrome Otoonychoperoneal Syndrome[rgd.mcw.edu] Down-sloping shoulders MedGen UID: 346461 • Concept ID: C1856872 • Finding Low set, steeply sloping shoulders.[ncbi.nlm.nih.gov] […] to Ruijs-Aalfs syndrome include: Triangular face Bulbous nose Prominent nasal bridge Frontal bossing Delayed skeletal maturation Skeletal muscle atrophy Weight Loss Down-sloping[familydiagnosis.com]

  • Hamamy Syndrome

    Abstract We report two sporadic cases of a hitherto undescribed skeletal dysplasia with short stature and characteristic facies.[link.springer.com] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Frontal bossing 0002007 High, narrow palate Narrow, high-arched roof of mouth Narrow[rarediseases.info.nih.gov] shoulders pterygium colli Skeletal Skull: craniosynostosis (in some patients) Head And Neck Eyes: laterally sparse eyebrows severe hypertelorism myopia, progressive severe[malacards.org]

    Missing: Urine Hyaluronic Acid Increased
  • Williams-Beuren Syndrome

    They can have a short stature, sloping shoulders, long neck and limited movement in their joints. What medical issues are associated with Williams Syndrome?[aapos.org] shoulders, a long neck, and are short of stature.[disabled-world.com] People with Williams syndromeare also likely to have a long neck, sloping shoulders, short stature, limited mobility in their joints, and curvature of the spine.[web.archive.org]

    Missing: Urine Hyaluronic Acid Increased
  • Coxa Valga

    The differential diagnosis includes neuromuscular disorders (i.e. cerebral palsy, spinal dysraphism, poliomyelitis), skeletal dysplasias, and juvenile idiopathic arthritis[en.wikipedia.org] Skeletal defects include long neck, narrow thorax, down-sloping shoulders, and prominent elbow joints (Wiedemann et al. 1993).[rrnursingschool.biz] dysplasias, and juvenile idiopathic arthritis.[medbox.iiab.me]

    Missing: Urine Hyaluronic Acid Increased
  • Skeletal Dysplasia

    Skeletal dysplasias result from disruptions in normal skeletal growth and development and are a major contributor to severe short stature.[ncbi.nlm.nih.gov] As a result, their shoulders are narrow and sloping, can be brought unusually close together in front of the body, and in some cases can be made to meet in the middle of the[ghr.nlm.nih.gov] DEVELOPMENT AND ENDOCHONDRAL OSSIFICATION CELLULAR PROCESSES THAT CONTRIBUTE TO NORMAL SKELETAL GROWTH AND SKELETAL DYSPLASIA THE SKELETAL DYSPLASIAS THE GENETICS OF SKELETAL[doi.org]

    Missing: Urine Hyaluronic Acid Increased
  • 3M Syndrome Type 1

    Post-termination examination revealed no skeletal dysplasia, but some subtle proximal limb shortening in two foetuses, and a spectrum of mildly dysmorphic features.[ncbi.nlm.nih.gov] Other skeletal abnormalities that often occur in this disorder include a short, broad neck and chest; prominent shoulder blades; and shoulders that slope less than usual ([ghr.nlm.nih.gov] , Ivo - Kuklík, Miloslav - Maříková, Alena - Štědrý, Robert bone (skeletal) dysplasia, constitutional disorders of bone, nosology, classification, nomenclature In: Osteologický[cps.lf1.cuni.cz]

    Missing: Urine Hyaluronic Acid Increased
  • Craniofrontonasal Dysplasia

    […] this panel Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel By Blueprint Genetics in Finland.[mendelian.co] shoulders Rounded shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324[rarediseases.info.nih.gov] Axillary pterygia Bipartite clavicle Brachycephaly Brachydactyly Broad hallux Camptodactyly of finger Clinodactyly of the 5th finger Craniosynostosis Down-sloping shoulders[familydiagnosis.com]

    Missing: Urine Hyaluronic Acid Increased
  • Platyspondyly

    TY - JOUR T1 - A new form of skeletal dysplasia with amelogenesis imperfecta and platyspondyly.[unboundmedicine.com] shoulders Neurodevelopmental delay Hyperhidrosis Pes cavus Large earlobe Proptosis Nephroblastoma Hypothyroidism Inverted nipples Enlarged kidney Broad forehead Talipes Stiff[mendelian.co] We considered that the patients could be affected by a new distinct autosomal recessive type brachyolmia or a new skeletal dysplasia.[read.qxmd.com]

    Missing: Urine Hyaluronic Acid Increased
  • Schwartz-Lelek Syndrome

    dysplasia terminology and diag nosis, and has proved of immense value to its users.[books.google.com] shoulders and clavicles, winged, low, and laterally-set scapulae, hearing impairment and mild intellectual deficit.[mendelian.co] Diseases related with Wide nasal bridge and Skeletal dysplasia In the following list you will find some of the most common rare diseases related to Wide nasal bridge and Skeletal[mendelian.co]

    Missing: Urine Hyaluronic Acid Increased

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